======= PABPN1 ======= == Gene Information == * **Official Symbol**: PABPN1 * **Official Name**: poly(A) binding protein nuclear 1 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=8106|8106]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q86U42|Q86U42]] * **Interactions**: [[https://thebiogrid.org/search.php?search=PABPN1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PABPN1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/602279|Open OMIM]] == Function Summary == * **Entrez Summary**: This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010]. * **UniProt Summary**: Involved in the 3'-end formation of mRNA precursors (pre-mRNA) by the addition of a poly(A) tail of 200-250 nt to the upstream cleavage product (By similarity). Stimulates poly(A) polymerase (PAPOLA) conferring processivity on the poly(A) tail elongation reaction and controls also the poly(A) tail length (By similarity). Increases the affinity of poly(A) polymerase for RNA (By similarity). Is also present at various stages of mRNA metabolism including nucleocytoplasmic trafficking and nonsense- mediated decay (NMD) of mRNA. Cooperates with SKIP to synergistically activate E-box-mediated transcription through MYOD1 and may regulate the expression of muscle-specific genes (PubMed:11371506). Binds to poly(A) and to poly(G) with high affinity (By similarity). May protect the poly(A) tail from degradation (By similarity). Subunit of the trimeric poly(A) tail exosome targeting (PAXT) complex, a complex that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters (PubMed:27871484). {ECO:0000250|UniProtKB:Q28165, ECO:0000269|PubMed:11371506, ECO:0000269|PubMed:27871484}. |RRM 1| |positive regulation of polynucleotide adenylyltransferase activity| |regulation of polynucleotide adenylyltransferase activity| |modification by virus of host mRNA processing| |modulation by virus of host gene expression| |nuclear inclusion body| |RNA polymerase binding| |modulation by virus of host cellular process| |poly(A)+ mRNA export from nucleus| |modulation by symbiont of host cellular process| |modulation by virus of host morphology or physiology| |termination of RNA polymerase II transcription| |modification by symbiont of host morphology or physiology| |DNA-templated transcription, termination| |mRNA 3-end processing| |mRNA-containing ribonucleoprotein complex export from nucleus| |mRNA export from nucleus| |modification of morphology or physiology of other organism involved in symbiotic interaction| |ribonucleoprotein complex export from nucleus| |ribonucleoprotein complex localization| |RNA export from nucleus| |RNA 3-end processing| |regulation of mRNA processing| |protein export from nucleus| |ribonucleoprotein complex| |mRNA transport| |modification of morphology or physiology of other organism| |interaction with host| |nuclear export| |cellular response to lipopolysaccharide| |RNA transport| |nucleic acid transport| |cellular response to molecule of bacterial origin| |establishment of RNA localization| |cellular response to biotic stimulus| |RNA localization| |nucleobase-containing compound transport| |muscle contraction| |protein-containing complex localization| |nucleocytoplasmic transport| |nuclear transport| |mRNA splicing, via spliceosome| |RNA splicing, via transesterification reactions with bulged adenosine as nucleophile| |muscle system process| |RNA splicing, via transesterification reactions| |response to lipopolysaccharide| |response to molecule of bacterial origin| |regulation of mRNA metabolic process| |MAPK cascade| |signal transduction by protein phosphorylation| |RNA splicing| |nuclear speck| |mRNA processing| |transcription by RNA polymerase II| |cellular response to lipid| |transcription, DNA-templated| |nucleic acid-templated transcription| |RNA biosynthetic process| |positive regulation of transferase activity| |response to bacterium| |mRNA metabolic process| |viral process| |symbiotic process| |interspecies interaction between organisms| |response to lipid| |RNA processing| |protein phosphorylation| |regulation of transferase activity| |intracellular protein transport| |cellular response to oxygen-containing compound| |nucleobase-containing compound biosynthetic process| |heterocycle biosynthetic process| |aromatic compound biosynthetic process| |phosphorylation| |response to other organism| |organic cyclic compound biosynthetic process| |response to external biotic stimulus| |response to biotic stimulus| |RNA binding| |positive regulation of catalytic activity| |protein transport| |intracellular transport| |peptide transport| |response to oxygen-containing compound| |amide transport| |cellular protein localization| |cellular macromolecule localization| |establishment of protein localization| |cellular nitrogen compound biosynthetic process| |RNA metabolic process| |intracellular signal transduction| |cellular macromolecule biosynthetic process| |macromolecule biosynthetic process| |positive regulation of molecular function| |establishment of localization in cell| |nitrogen compound transport| |system process| |gene expression| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp466|Cannabidiol 20μM R08 exp466]]|-1.82| |[[:results:exp122|Golgicide-A 4μM R03 exp122]]|1.75| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 624/726 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|1/1| |909776.0|0/1| |bile duct|22/28| |blood|27/28| |bone|21/25| |breast|30/33| |central nervous system|53/56| |cervix|4/4| |colorectal|15/17| |esophagus|8/13| |fibroblast|0/1| |gastric|15/15| |kidney|21/21| |liver|17/20| |lung|61/75| |lymphocyte|10/14| |ovary|22/26| |pancreas|19/24| |peripheral nervous system|10/16| |plasma cell|15/15| |prostate|0/1| |skin|21/24| |soft tissue|6/7| |thyroid|2/2| |upper aerodigestive|15/22| |urinary tract|27/29| |uterus|4/5| == Essentiality in NALM6 == * **Essentiality Rank**: 442 * **Expression level (log2 read counts)**: 7.49 {{:chemogenomics:nalm6 dist.png?nolink |}}